Canonical Allele Identifier: CA633484279

Gene: FKRP

Linked Data

• ClinVar Variation Id: 1071118
• ClinVar RCV Id: RCV001383495
• dbSNP Id: rs1311148380
• gnomAD v2: 19-47259242-A-ACCGCCCGCTATGGCGCAGCCCCCGCCGCGCC
• gnomAD v4: 19-46755985-A-ACCGCCCGCTATGGCGCAGCCCCCGCCGCGCC
• MyVariant Identifiers: chr19:g.47259242_47259243insCCGCCCGCTATGGCGCAGCCCCCGCCGCGCC (hg19) ; chr19:g.46755985_46755986insCCGCCCGCTATGGCGCAGCCCCCGCCGCGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46755990_46756020dup , CM000681.2:g.46755990_46756020dup	GRCh38
NC_000019.9:g.47259247_47259277dup , CM000681.1:g.47259247_47259277dup	GRCh37
NC_000019.8:g.51951087_51951117dup	NCBI36
NG_008898.2:g.14945_14975dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318584.10:c.540_570dup MANE Select	ENSP00000326570.4:p.Cys191ProfsTer?
ENST00000318584.9:c.540_570dup	ENSP00000326570.4:p.Cys191ProfsTer?
ENST00000391909.7:c.540_570dup	ENSP00000375776.2:p.Cys191ProfsTer?
ENST00000597339.5:n.247-5843_247-5813dup
ENST00000600646.5:n.247+7325_247+7355dup
NM_001039885.2:c.540_570dup	NP_001034974.1:p.Cys191ProfsTer?
NM_024301.4:c.540_570dup	NP_077277.1:p.Cys191ProfsTer?
XM_005259247.1:c.540_570dup	XP_005259304.1:p.Cys191ProfsTer?
XM_005259248.1:c.540_570dup	XP_005259305.1:p.Cys191ProfsTer?
XM_005259249.3:c.540_570dup	XP_005259306.1:p.Cys191ProfsTer?
XM_005259250.3:c.540_570dup	XP_005259307.1:p.Cys191ProfsTer?
XM_011527301.1:c.540_570dup	XP_011525603.1:p.Cys191ProfsTer?
XM_011527302.1:c.540_570dup	XP_011525604.1:p.Cys191ProfsTer?
XM_011527303.1:c.540_570dup	XP_011525605.1:p.Cys191ProfsTer?
XM_011527304.1:c.540_570dup	XP_011525606.1:p.Cys191ProfsTer?
XM_011527305.1:c.540_570dup	XP_011525607.1:p.Cys191ProfsTer?
XM_011527306.1:c.540_570dup	XP_011525608.1:p.Cys191ProfsTer?
XM_011527307.1:c.540_570dup	XP_011525609.1:p.Cys191ProfsTer?
XM_005259247.2:c.540_570dup	XP_005259304.1:p.Cys191ProfsTer?
XM_005259248.2:c.540_570dup	XP_005259305.1:p.Cys191ProfsTer?
XM_005259249.4:c.540_570dup	XP_005259306.1:p.Cys191ProfsTer?
XM_011527306.2:c.540_570dup	XP_011525608.1:p.Cys191ProfsTer?
XM_017027297.2:c.540_570dup	XP_016882786.1:p.Cys191ProfsTer?
XM_024451707.1:c.540_570dup	XP_024307475.1:p.Cys191ProfsTer?
NM_001039885.3:c.540_570dup	NP_001034974.1:p.Cys191ProfsTer?
NM_024301.5:c.540_570dup MANE Select	NP_077277.1:p.Cys191ProfsTer?